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Breast cancer patients with BRCA1 or 2 mutations twice as likely to have double mastectomy

06.04.2004

Newly diagnosed breast cancer patients who test positive for a BRCA1 or BRCA2 gene mutation are twice as likely to opt for bilateral or double mastectomy, taking the most aggressive surgical stance to treat their current cancer and reduce their risk for future breast cancer.

The study, led by researchers at Georgetown University Medical Centers Lombardi Comprehensive Cancer Center (LCCC) and published online today in the Journal of Clinical Oncology, is the largest to date that evaluates if genetic testing offered at the time of breast cancer diagnosis affects patients breast cancer treatment decisions.

In contrast to the 48 percent of women who had double mastectomies after testing positive for a BRCA1 or BRCA 2 mutation, 24 percent of patients with no mutation and four percent of test decliners opted for the more extensive surgery.

"Rapid genetic counseling and testing could serve as a valuable decision-making tool for newly diagnosed breast cancer patients at high risk for carrying a mutation," said Marc Schwartz, Ph.D., associate professor of oncology at Georgetowns LCCC. "Prophylactic mastectomy remains controversial, but this study suggests that for some patients who learn that they are at high risk for developing a second breast cancer, bilateral mastectomy becomes a viable alternative to more traditional breast-conserving therapy or unilateral mastectomy."

A woman who tests positive for the BRCA1/2 mutation has a 40-65 percent risk of contralateral breast cancer – meaning breast cancer in the non-cancerous breast. While breast conserving therapy (a combination of lumpectomy plus radiation) and unilateral mastectomy are effective treatments for the newly diagnosed breast cancer, these treatments do not protect against the development of a new breast cancer in the opposite breast.

Although testing was provided free of charge in this study, most insurance companies cover most of the cost for BRCA1/2 testing, says Schwartz, and costs range from $415 for a limited test of three mutations in Jewish women to $2975 for a full BRCA1/2 test. "Genetic counseling is fairly accessible in the United States, but availability is far from universal. And even if cancer centers have genetic counseling resources, they may not be prepared to offer rapid counseling and testing as part of routine medical management of newly diagnosed breast cancer patients."

"Were not ready to recommend widespread integration of rapid genetic counseling and testing at the point of diagnosis until we evaluate long-term psychosocial and medical outcomes of counseling and testing in a true pay-for-services clinical setting," said Schwartz. "However, the real take away message from this study is that high risk breast cancer patients should be informed about the availability of genetic counseling and testing so that they can make informed choices about their cancer treatment. Many women in our study found that testing provided valuable guidance as they navigated their way through treatment options."

Women with a BRCA1 or BRCA2 alteration may choose to manage their increased risk of breast cancer by undergoing increased screening with frequent clinician performed breast exams, mammography and possibly magnetic resonance imaging (MRI). In addition, they may consider risk reducing options such as prophylactic mastectomy, tamoxifen, or prophylactic removal of the ovaries. The latter procedure significantly reduces the risk of ovarian cancer, the risks for which are also very elevated in these women, and simultaneously reduces the risk of breast cancer in women who have not yet undergone menopause.

"The complex issues involved in medical decision-making underscore the importance of patients discussing these issues with their doctor," said Beth Peshkin, MS, senior genetic counselor at LCCC and co-author of the study.

For more information on BRCA mutations and genetic testing, visit the National Cancer Institutes fact sheet Genetic Testing for BRCA1 and BRCA2: Its Your Choice at http://cis.nci.nih.gov/fact/3_62.htm.

Co-authors from Lombardi include Beth Peshkin, MS, Marie Pennanen, MD, Shawna Willey, MD, and Claudine Isaacs, MD. Researchers from the Department of Psychiatry at the University of Pennsylvania Abramson Cancer Center also contributed to the study.

The Lombardi Comprehensive Cancer Center, part of Georgetown University Medical Center and Georgetown University Hospital, seeks to improve the diagnosis, treatment, and prevention of cancer through innovative basic and clinical research, patient care, community education and outreach, and the training of cancer specialists of the future. Lombardi is one of only 38 comprehensive cancer centers in the nation, as designated by the National Cancer Institute, and the only one in the Washington DC area. For more information, go to www.georgetown.edu/gumc

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